title: [A case of Kearns-Sayre syndrome].
abstract: In the literature there are only 3 cases of women with Kaerns-Sayre Syndrome (KSS) who delivered a healthy child. Our case is the fourth. The purpose of the report is to describe a 30-year old woman presenting typical clinical features of KSS, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and onset of the disease before the age of 20. It was also associated with cardiac conduction defects, neurological symptoms and variety of endocrine and metabolic disorders. On muscle biopsy (m. biceps brachii) mitochondrial abnormalities on electron microscopy were seen. KSS is a form of mitochondrial myopathy with specific clinical features. Recognition of mtDNA deletion as the genetic basis of KSS confirmed the validity of clinical criteria.
authors.affiliation: Katedry i Kliniki Chorób Oczu AM w Gdańsku.
authors.forename: W
authors.initials: W
authors.lastname: Kokot
authors.forename: B
authors.initials: B
authors.lastname: Iwaszkiewicz-Bilikiewiczowa
authors.forename: A
authors.initials: A
authors.lastname: Lewczuk
authors.forename: K
authors.initials: K
authors.lastname: Sworczak
mesh_terms: D000328:Adult; D004272:DNA, Mitochondrial / Q000032:analysis; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis*; D008854:Microscopy, Electron; D008928:Mitochondria / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology; D009886:Ophthalmoplegia / Q000175:diagnosis; D012162:Retinal Degeneration / Q000175:diagnosis
chemical_list: D004272:DNA, Mitochondrial
vernacular_title: Przypadek zespołu Kaerns-Sayre.